RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
Developmental Delay with or without Dysmorphic Facies and Autism
A complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups, with severity being the main difference.
ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: TRRAP-Related Disorder | ClinVar Annotator: match by term: TRRAP-related condition